| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Familial Hyperinsulinism
Test Code92045
CPT Codes
81401
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube or ACD (yellow-top) tube
Minimum Volume
4 mL whole blood • 2 mL (x2) cultured amniocytes • 10 mL amniotic fluid • 10 mg chorionic villus sampling
Other Acceptable Specimens
Whole blood collected in a heparin (green-top) tube • 5 mL amniocyte culture submitted in two T-25 flasks filled with medium culture • 15 mL amniotic fluid • 20 mg chorionic villus CVS cultured cells submitted in a sterile tube filled with sterile culture media
Instructions
Whole blood (preferred): Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
For prenatal diagnosis with a fetal specimen:
1) parents must be documented carriers of one of the mutations tested;
2) maternal blood or DNA must be available;
3) contact the laboratory genetic counselor before submission.
Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze.
Amniocyte culture: Sterile T25 flask, filled with culture medium. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze.
Dissected chorionic villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in sterile tube filled with sterile culture media. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze.
Forward cells to laboratory immediately!
For prenatal diagnosis with a fetal specimen:
1) parents must be documented carriers of one of the mutations tested;
2) maternal blood or DNA must be available;
3) contact the laboratory genetic counselor before submission.
Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze.
Amniocyte culture: Sterile T25 flask, filled with culture medium. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze.
Dissected chorionic villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in sterile tube filled with sterile culture media. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze.
Forward cells to laboratory immediately!
Transport Temperature
Room temperature
Specimen Stability
Whole blood
Room temperature: 14 days
Refrigerated: 8 days
Frozen: Unacceptable
All other specimens
Room temperature: 8 days
Refrigerated: Unacceptable
Frozen: Unacceptable
Room temperature: 14 days
Refrigerated: 8 days
Frozen: Unacceptable
All other specimens
Room temperature: 8 days
Refrigerated: Unacceptable
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Do not accept blood that is clotted, or shipped in damaged containers • Wrong test indication
Methodology
PCR amplification of specific gene regions followed by nucleotide sequence analysis on a massively parallel sequencing platform
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Mon, Sat; Report available: 11-17 days
Reference Range
See Laboratory Report
Clinical Significance
The familial hyperinsulinism (FH) test offers molecular detection of two common pathogenic variants in the ABCC8 gene, IVS32-9G>A (c.3989-9G>A) and F1387del (c.4160_4162delTCT), which account for approximately 90% of Ashkenazi-Jewish FH pathogenic variants.
FH is an autosomal recessive disorder characterized by an inability to suppress insulin production that results in hypoglycemia (low blood sugar).
FH is an autosomal recessive disorder characterized by an inability to suppress insulin production that results in hypoglycemia (low blood sugar).
Performing Laboratory
| Quest Diagnostics Nichols Institute-San Juan Capistrano, CA |
| 33608 Ortega Highway |
| San Juan Capistrano, CA 92675-2042 |
